Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2: C48R: A Novel Mutation in AGPAT2

Medicine & Life Sciences

• Glycerides 100%
• Acyltransferases 95%
• Lipodystrophy 90%
• Phosphates 57%
• Mutation 37%
• Genes 26%
• Congenital Generalized Lipodystrophy 15%
• 1-Acylglycerol-3-Phosphate O-Acyltransferase 9%
• Dyslipidemias 9%
• Adipocytes 9%
• protein acyltransferase 8%
• Adipogenesis 5%
• Messenger RNA 5%
• Loss of Function Mutation 5%
• Proteins 5%
• Amino Acid Substitution 5%
• Siblings 4%
• Aptitude 3%
• Physicians 3%
• Cell Line 2%

Chemical Compounds

• Mutation 56%
• Protein 15%
• Substitution Reaction 6%
• Acid 3%